X-linked Ichthyosis

Other names: steroid sulfatase deficiency; recessive X-linked ichthyosis

OMIM: 308100

Inheritance: X-linked recessive

Incidence: 1:2,000 - 1:9,500

Key findings:

Associated findings:

Age at first appearance: may be present at birth; often not noticed for months or years

Long-term course: overall severity does not change with time; distinctly worse in dry weather

Diagnostic tests: cholesterol sulfate level in blood; chemical or fluorescence analysis of cellular DNA

Abnormal gene: steroid sulfatase

 
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